ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800417
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000626482
ClinVar Variation:
440879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.Arg170Ser
CA413295647
NM_000032.5:c.508C>A