ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826758813
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_001276023.1:p.Arg203Cys
CA247145
NM_001289094.1:c.607C>T