ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247146
Gene: HARS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198477
ClinVar RCV Id:
RCV000179843
RCV000556160
RCV004020158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002100.2:p.Arg232Cys
CA247145
NM_002109.6:c.694C>T