ClinGen Allele Registry
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Canonical Allele Identifier:
PA658659554
Gene: HARS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
472990
ClinVar RCV Id:
RCV001073307
RCV000835736
RCV001086767
RCV003915604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002100.2:p.Thr482Met
CA3443819
NM_002109.6:c.1445C>T