ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825381960
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000323663
RCV000842471
RCV001821131
ClinVar Variation:
368598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001033057.1:p.Ala208Thr
CA10428394
NM_001037968.4:c.622G>A