ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993736
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000510095
RCV001072873
RCV001211494
ClinVar Variation:
441375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Met546Thr
CA053470
NM_007299.4:c.1637T>C