ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139725582
Gene: MAST1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001254173
ClinVar Variation:
976783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055790.1:p.Ala1308Val
CA404289383
NM_014975.3:c.3923C>T