ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697010
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55416
ClinVar RCV Id:
RCV000112507
RCV000508636
RCV001023609
RCV001853019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1668Asn
CA003266
NM_007297.4:c.5003G>A