ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999724
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441297
ClinVar RCV Id:
RCV000510057
RCV000552904
RCV001194381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1178Asn
CA10594904
NM_007300.4:c.3533G>A