ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995881
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001009674
RCV001374318
RCV003316818
ClinVar Variation:
818253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr336Arg
CA10600047
NM_007300.4:c.1007C>G