ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826758994
Gene: HARS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
540202
ClinVar RCV Id:
RCV000650149
RCV000998447
RCV004025793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276023.1:p.Glu439Lys
CA3443829
NM_001289094.1:c.1315G>A