ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999954
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232408
ClinVar RCV Id:
RCV000222315
RCV001224925
RCV001571199
RCV003493525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1220Val
CA059305
NM_007300.4:c.3659A>T