ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211421
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000148485
RCV000246668
RCV000273165
RCV000858405
RCV001610455
RCV002390308
ClinVar Variation:
161231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Val504Met
CA211420
NM_000118.3:c.1510G>A