ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692885
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577396
RCV000775157
RCV001296731
ClinVar Variation:
54900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1117Ile
CA002249
NM_007297.4:c.3350G>T