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ClinGen Allele Registry
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Canonical Allele Identifier:
CA6289428
Community Standard Title: NM_000482.4(APOA4):c.440G>A (p.Ser147Asn)
Gene: APOA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116821618C>T , CM000673.2:g.116821618C>T
GRCh38
NC_000011.9:g.116692334C>T , CM000673.1:g.116692334C>T
GRCh37
NC_000011.8:g.116197544C>T
NCBI36
NG_012044.1:g.6678G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_000482.4:c.440G>A
MANE Select
NP_000473.2:p.Ser147Asn
ENST00000357780.5:c.440G>A
MANE Select
ENSP00000350425.3:p.Ser147Asn
NM_000482.3:c.440G>A
NP_000473.2:p.Ser147Asn
ENST00000357780.4:c.440G>A
ENSP00000350425.3:p.Ser147Asn
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