ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826453429
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_001244970.1:p.Arg212Cys
CA247145
NM_001258041.3:c.634C>T