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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:
CA1866594414
Gene: KRT18P13
HGNC
NCBI
PTCSC2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97700027_97700030delinsCTGG , CM000671.2:g.97700027_97700030delinsCTGG
GRCh38
NC_000009.11:g.100462309_100462312delinsCTGG , CM000671.1:g.100462309_100462312delinsCTGG
GRCh37
NC_000009.10:g.99502130_99502133delinsCTGG
NCBI36
NG_011642.1:g.2380_2383delinsCCAG , LRG_471:g.2380_2383delinsCCAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000400056.3:n.663-80_663-77delinsCTGG
(KRT18P13)
NR_147055.1:n.1542_1545delinsCCAG
(PTCSC2)
Search 100 bp 5'
Search 100 bp 3'