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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
Allele Registry
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Canonical Allele Identifier:
CA1818225350
Gene: PRNCR1
HGNC
NCBI
PCAT2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1797179203
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127080302T>A , CM000670.2:g.127080302T>A
GRCh38
NC_000008.10:g.128092547T>A , CM000670.1:g.128092547T>A
GRCh37
NC_000008.9:g.128161729T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109833.1:n.429T>A
(PRNCR1)
NR_119373.1:n.102-1169A>T
(PCAT2)
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