ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693388
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577235
RCV003157374
ClinVar Variation:
54990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1206Tyr
CA002408
NM_007297.4:c.3617C>A