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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1866594383
Gene: KRT18P13
HGNC
NCBI
PTCSC2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97700020_97700028delinsAGTTTGTCT , CM000671.2:g.97700020_97700028delinsAGTTTGTCT
GRCh38
NC_000009.11:g.100462302_100462310delinsAGTTTGTCT , CM000671.1:g.100462302_100462310delinsAGTTTGTCT
GRCh37
NC_000009.10:g.99502123_99502131delinsAGTTTGTCT
NCBI36
NG_011642.1:g.2382_2390delinsAGACAAACT , LRG_471:g.2382_2390delinsAGACAAACT
Transcript Alleles
HGVS
Amino-acid change
ENST00000400056.3:n.663-87_663-79delinsAGTTTGTCT
(KRT18P13)
NR_147055.1:n.1544_1552delinsAGACAAACT
(PTCSC2)
Search 100 bp 5'
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